Male
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000152.4:c.670C>T | 1 | |||
NM_000152.4:c.1064T>C | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
232300.8 | Lebanon | Unknown | ||||
232300.9 | Lebanon | Cardiomyopathy | ||||
232300.10 | Lebanon | Global developmental delay; Hypotonia | Female | No | Yes | |
232300.11 | Lebanon | Global developmental delay; Hypotonia | Female | No | Yes | |
232300.12 | Lebanon | Male | Heterozygous carrier; this individual had two children who died of Pompe disease. |